Cardiac ryanodine receptor calcium release deficiency syndrome

B Sun, J Yao, M Ni, J Wei, X Zhong, W Guo… - Science translational …, 2021 - science.org
… RyR2 mutations cause SCD, we generated a knock-in mouse model … , we show that CRDS
RyR2-D4646A +/− LOF mutation … phenotype lacks catecholamine-induced ventricular ectopy, …

Gene therapy for Catecholaminergic polymorphic ventricular tachycardia

PR Pérez, RJ Hylind, TM Roston, VJ Bezzerides… - Heart, Lung and …, 2023 - Elsevier
… sequence variants in the cardiac ryanodine receptor (RyR2) … R176Q mice increasing
gRNA specificity for the mutant allele… catecholamine-induced VT in RYR2 R4496C mice and …

Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death

Y Qian, D Zuo, J Xiong, Y Yin, R Qi, X Ma, A Yan… - Europace, 2023 - academic.oup.com
… generated a mouse model that carried the A690E mutation. … by a combination of
catecholamine-induced VT underlying QT interval … Mutation R176Q caused cardiac dysfunction …

An inherited life-threatening arrhythmia model established by screening randomly mutagenized mice

Y Okabe, N Murakoshi… - Proceedings of the …, 2024 - National Acad Sciences
… We thus established a mouse pedigree harboring a novel ryanodine receptor 2 gene (Ryr2)
missense mutation that exhibited bidirectional ventricular tachycardia (BVT) spontaneously …

[PDF][PDF] Long-term efficacy and safety of cardiac genome editing for catecholaminergic polymorphic ventricular tachycardia

OM Moore, Y Aguilar-Sanchez, SK Lahiri… - … of Cardiovascular Aging, 2024 - f.oaes.cc
… RYR2 gene encoding the type 2 ryanodine receptor (RyR2)[7]. … induction of ventricular
tachycardia in 6 of 8 R176Q/+ mice that … -SaCas9-treated R176Q/+ mice exhibited a significantly …

A Novel Mice Model of Catecholaminergic Polymorphic Ventricular Tachycardia Generated by CRISPR/Cas9

C Hou, X Jiang, Q Qiu, J Zheng, S Lin, S Chen, M Xu… - bioRxiv, 2021 - biorxiv.org
… reported that cardiac ryanodine receptor mutations caused … WT mice, the Tecrl KO mice
cardiomyocytes exhibited similar … ) to neonatal mice with a known CPVT mutation (RyR2 R176Q/…

[HTML][HTML] Characterization of N-terminal RYR2 variants outside CPVT1 hotspot regions using patient iPSCs reveal pathogenesis and therapeutic potential

MJ Stutzman, CSJ Kim, DJ Tester, SK Hamrick… - Stem Cell Reports, 2022 - cell.com
… polymorphic ventricular tachycardia (CPVT) is a cardiac channelopathy causing ventricular
… Pathogenic variants in RYR2-encoded ryanodine receptor 2 (RYR2) cause CPVT1 and …

[HTML][HTML] Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care

A Siu, E Tandanu, B Ma, EE Osas, H Liu… - … Pediatric Cardiology, 2023 - journals.lww.com
… with a mutation in the human cardiac ryanodine receptor gene … [ 22 ] When such a population
of mice underwent a … [ 11 ] Human cardiac cells harboring the D307H mutation exhibit

Gene therapy for inherited arrhythmias

VJ Bezzerides, M Prondzynski, L Carrier… - Cardiovascular …, 2020 - academic.oup.com
… , dominant mutations in the type 2 ryanodine receptor (RYR2) … protected CPVT mice from
catecholamine-induced ventricular … induced arrhythmias in Ryr2 R176Q/+ mice treated with the …

Identification of an amino-terminus determinant critical for ryanodine receptor/Ca2+ release channel function

M Seidel, CR de Meritens, L Johnson… - Cardiovascular …, 2021 - academic.oup.com
… We also show that the RyR2 N-terminus domain interacts … R176Q mutation linked with
arrhythmogenic right ventricular … 39 whereas ventricular myocytes from A4860G knockin mice had …